Glycogen Storage Diseases

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  • เผยแพร่เมื่อ 21 ม.ค. 2025

ความคิดเห็น • 324

  • @grizzlieplyr5221
    @grizzlieplyr5221 5 ปีที่แล้ว +667

    Writing these down so when I inevitably come back. Thanks man!!
    1. Von Gierke Disease- "Von Geek Disease"
    ---Lack of G-6-phosphatase
    - Hepatomegaly
    - Hyperlipidemia/ hyperuricemia (fat/protein catabolism)
    2. Cori Disease- "Coral Disease"
    ---Lack of debranching enzyme (alpha-1,6-glucosidase)
    - Same symptoms as Von Gierke, but with abnormal glycogen structure
    3. McArdle's- Muscle
    --- Lack of glycogen phosphorylase
    - Myoglobinuria
    - Muscle cramps on exertion
    4. Her's- Hepatic
    --- Lack of glycogen phosphorylase
    - Hepatomegaly
    - Fasting hypoglycemia
    5. Anderson Disease- "Anderson Cooper gets straight to the point"
    --- Lack of branching enzyme
    -Cirrhosis (fatal)
    6. Pompe Disease- "Pompe affects the pump"
    -- Lack of debranching enzyme specific to lysosomes
    - Cardiomegaly

  • @waqasashraf6552
    @waqasashraf6552 4 ปีที่แล้ว +493

    You can also memorise it as
    A->B =Andersons Branching
    C->D = Coris Debranching
    Others
    H and H = Hers for Hepatic
    M and M = McArdles for Muscle

  • @cassiemorgan8898
    @cassiemorgan8898 5 ปีที่แล้ว +249

    You are officially MVP of the internet. You deserve a streamy.

    • @robertobobby7646
      @robertobobby7646 2 ปีที่แล้ว

      How is it ? Short cut simple hot
      Water base ( 1 spoon coffee +1 spoon cocoa+ 1spoon sugar it should be little bitter taste mm not sweet (dilute the old fatty acid glucose fructose branching enzyme repair any vital organs damage including incidence of scars wound++(lryny,esapagus lungs liver bile appendix abdomen kidney illium
      Blood vessels top is the brain cortex eye vessels spinal chor
      Youghurt garlic compound simple natural repair doctor do it your self ignorance is deadly

  • @robertcarriero9987
    @robertcarriero9987 22 วันที่ผ่านมา +3

    Thanks man I really appreciate the videos! I'm a dental student studying for the CBSE for sugery and these videos are amazing to help study because we don't learn this biochem in dental school!

  • @DraakMD
    @DraakMD 4 ปีที่แล้ว +62

    I remember something from uworld vaguely. It said that the increase in uric acid levels in VGD is due to build up of pyruvate that shunts to lactate. The increased lactate competes with the same transporter as that of uric acid. Hence its build up. On the other hand hypoglycemia stimulates epinephrine that activates lipoprotein lipase which then increases FFAs and TGs. Great video, thanks.

    • @sleepytraveler369
      @sleepytraveler369 4 ปีที่แล้ว +5

      Thanks for that, I was kind of confused because I thought uric acid is from purine breakdown, not amino acids

    • @coolabe87
      @coolabe87 2 ปีที่แล้ว +5

      @@sleepytraveler369 Lactate is a organic anion, and is a counterion for uric acid at the URAT1 antiporter on the apical surface of the collecting duct; thus the more lactate secreted into the urine, more uric acid reabsorbed into the blood

    • @11ramyatulsitejasria42
      @11ramyatulsitejasria42 2 ปีที่แล้ว +4

      glucose 6 phosphate that accumulates is diverted to pentose phosphate pathway increased synthesis of ribose phosphates increases the levels of phosphoribosyl pyrophosphates and enhance metabolism of purines...increases the uric acid..

    • @hi-this-is-stephen
      @hi-this-is-stephen ปีที่แล้ว

      Great

    • @bronxbomma718
      @bronxbomma718 ปีที่แล้ว +1

      This is correct but it has more to do with the metabolic knee-jerk reaction of shunting G-6-P into HMP shunt pathway, which leads to purine salvage and nucleotide synthesis (all of which require ↑uric acid production). Here is the algorithm:
      VGD = glucose 6 phosphate deficiency → ↑G-6-P SUBSTRATE accumulates → G-6-P enters HMP shunt pathway → ↑PRPP | NADPH production → PRPP used in nucleotide synthesis and salvage of adenine | hypoxanthine | guanine | thymine | uracil | orotate (but not cytosine) → ↑purines metabolized via xanthine oxidase → ↑hypoxanthine → ↑xanthine → ↑uric acid produced and subsequently consumed by macrophages → GOUT

  • @memersharma1551
    @memersharma1551 4 ปีที่แล้ว +24

    Hyperuricemia is due to increased conversion of Glucose 6 phosphate into prpp which Ultimately contribute to the increased production of the purines and the increased catabokism of purines leads to hyperuricemia that increases chances of gout

  • @mellnick6838
    @mellnick6838 2 ปีที่แล้ว +8

    I've always struggled with biochem and all of the pathways seemed to abstract when given in 1st year medicine school, but now I am getting used to them and it is all because of your amazing content! Thank you so much!

  • @sohniya7681
    @sohniya7681 5 ปีที่แล้ว +10

    I know you’ve heard this a million times but you rock!!!!!

  • @fromahappy5536
    @fromahappy5536 4 ปีที่แล้ว +5

    I finally found the person who will get me to 260 in step 1. Thanks man. Not all heroes wear capes

    • @fromahappy5536
      @fromahappy5536 3 ปีที่แล้ว +1

      @@michigan1085 good luck bro. I'm still in prep. I'm going for pass and fail

  • @hinawajid1575
    @hinawajid1575 3 ปีที่แล้ว +4

    No explanation can be more helpful than this!!! Seriously a great job. Thank you so much...

  • @janvisadhwani
    @janvisadhwani 5 ปีที่แล้ว +11

    Great job!!👍 You've been uploading all these videos together, all of them about the topics on my biochem test!!! Thank you,helped me a lot!💗

  • @jaxsenball8901
    @jaxsenball8901 3 ปีที่แล้ว +16

    This was PERFECT, thank you.
    Except Anderson...I'm gonna have trouble associating Anderson with straight. I'm sure he'd love to see your Anderson slide lol

  • @asmaa.rahman6100
    @asmaa.rahman6100 5 ปีที่แล้ว +3

    Thnk you
    The only video on youtube regarding glycogen storage disease that you feel like listening

  • @MerrBusra
    @MerrBusra 7 หลายเดือนก่อน +2

    This is the best video about glycogen storage diseases. Thanks a lot!

  • @maximumovermuslim6337
    @maximumovermuslim6337 3 ปีที่แล้ว +25

    For Pompe Disease, the enzyme involved is acid alpha glucosidase. I remember this by the fact that Pompeiian (Mediterranean) diets include a lot of vinegar (acid). Plus, the fact that Pompeiians were killed pairs conveniently with the "-cide" sound in "glucosidase"

  • @kevonmccurdy3098
    @kevonmccurdy3098 4 หลายเดือนก่อน +2

    By far the best Glycogen storage disease lecture. Thank you👌

  • @ananyajha9931
    @ananyajha9931 2 ปีที่แล้ว +5

    I have been following your channel since medschool. You are so amazing it's surprising 🥺 Thankyou for making these videos and especially for keeping them free 🥺💯

  • @xxtimkimxx
    @xxtimkimxx 5 ปีที่แล้ว +6

    This is really high quality material man. Only a matter of time till your content blows up. Keep it up!

  • @giceliacarvalho7457
    @giceliacarvalho7457 4 ปีที่แล้ว +8

    This guy is FANTASTIC!!!! I am impressed how he can transformer difficult things in very easy and understandable. Congratulations.

  • @arslanahmed6295
    @arslanahmed6295 ปีที่แล้ว

    This is the best video on TH-cam. Nothing comes close to it

  • @thepeacekeeper3013
    @thepeacekeeper3013 2 ปีที่แล้ว +3

    This was the most helpful and summarised med video I've ever watched. Thank you so much. The hard work really paid off. ❤❤❤

  • @kaiveen09
    @kaiveen09 5 ปีที่แล้ว +6

    Thank god you re-uploaded this! Just in time for my step 2. Thank you

  • @254throwbackgaming
    @254throwbackgaming 5 ปีที่แล้ว +7

    You’re getting me through medical school man
    Thankyou 👏🏿

    • @HASSAN-ey2qf
      @HASSAN-ey2qf 5 ปีที่แล้ว

      Billy Odhiambo Fitness which year u in

  • @AlanaOkun
    @AlanaOkun 5 หลายเดือนก่อน

    I feel like I am going to fly into the ceiling. I have tried so many ways to remember these diseases to no avail, somehow with your video it just clicks. you have the perfect mnemonics. THANK YOU!!!!

  • @RizaAli119
    @RizaAli119 9 หลายเดือนก่อน

    Thanks!

  • @meowmeowgirliecow
    @meowmeowgirliecow ปีที่แล้ว +60

    Please correct me if I'm wrong, but I'm pretty sure there is a mistake in this video. I believe glycogen phosphorylase liberates free G1P until there are 4 glucose units remaining on the glycogen branch, then debranching enzymes have to come in and liberate the remaining G1P. Ultimately it is a different enzyme, phosphoglucomutase, that then yields G6P from the liberated G1P's. In this video, you say that debranching enzyme turns G1P into G6P.

    • @issacgeorgy8289
      @issacgeorgy8289 10 หลายเดือนก่อน +2

      Yeahh

    • @waleedsiddique7043
      @waleedsiddique7043 8 หลายเดือนก่อน +1

      👍

    • @Ramy-Remedy
      @Ramy-Remedy 7 หลายเดือนก่อน +6

      Exactly I thought the same way but I kinda slap my mind and said "HEY!! .. THIS PERSON KNOWS WHAT HE IS TALKING ABOUT U PEACE OF SH*T .....!"

    • @muhammadmujtaba785
      @muhammadmujtaba785 7 หลายเดือนก่อน +3

      So basically we only get glucose monomer from the branches of glycogen structure not from the linear structure?

    • @alanharris7878
      @alanharris7878 5 หลายเดือนก่อน +2

      Yes…straight up wrong

  • @munahiljaved2028
    @munahiljaved2028 ปีที่แล้ว +1

    This really made the concepts so easy to understand. Thank you sir!

  • @Moali-ys8vy
    @Moali-ys8vy ปีที่แล้ว

    The best explanation i saw for glycogen storage diseases thank you very much

  • @jonasheiderking1253
    @jonasheiderking1253 2 ปีที่แล้ว

    thank you sooooo much you saved my pediatrics state exam!!!!!!

  • @keinyienchong1991
    @keinyienchong1991 4 ปีที่แล้ว +1

    One thing I want to clarify : Lacking of glucose-6-phosphatase can affect glycogenolysis and also gluconeogenesis because gluconeogenesis also involves this enzyme. Then, how does hyperuricemia happen if gluconeogenesis(breaking down of amino acid) is affected? Btw, excellent and straight-to-the-point explanation.

  • @manishayadav9715
    @manishayadav9715 3 ปีที่แล้ว

    Best video ever seen ...with best tricks to learn👍👍👍

  • @studyturtle7159
    @studyturtle7159 2 ปีที่แล้ว +1

    Sir you are a lifesaver! Biochem never felt this easy.. thank u soo much!!

  • @Lo2ay5ory
    @Lo2ay5ory 2 ปีที่แล้ว

    You just saved my ass from failing this topic. I love you man.

  • @CiciliaMercy-px7cv
    @CiciliaMercy-px7cv 9 หลายเดือนก่อน

    You have saved me in biochemistry sir, thanks 😊💗✌️

  • @RickyCoco11
    @RickyCoco11 11 หลายเดือนก่อน +2

    - Andersong is long
    - Tus pompas make my heart hypertrophy (for spanish speakers)

  • @nonot911
    @nonot911 ปีที่แล้ว

    Somehow this was really enjoyable to watch despite my hate for biochem. Thank you for distilling the info!!!!!!!!

  • @fernandonateros6989
    @fernandonateros6989 3 ปีที่แล้ว +1

    Hyperuricemia occurs due to phosphate sequestration (in G6P) which interferes with the conversion of AMP to ATP, so AMP is degraded (uric acid) and also due to hyperlactacidemia which interferes with the renal secretion of uric acid.

  • @labbad3421
    @labbad3421 2 ปีที่แล้ว +1

    12:38 :"A super branched plant that lives in the sea"
    Me: SPONGEBOB SQU.... wait no

  • @jagmeetsingh01
    @jagmeetsingh01 2 ปีที่แล้ว +3

    additional difference between Cori and Von Gierke is that Von Gierke results in severe fasting hypoglycemia, whereas Cori results in mild fasting hypoglycemia because gluconeogenesis is compromised in VG but not in Cori

    • @ailsaarthur1363
      @ailsaarthur1363 2 ปีที่แล้ว

      Not always true though. Please check your comment

  • @frameshift_mutation
    @frameshift_mutation 9 หลายเดือนก่อน +4

    Debranching enzyme does NOT convert G-1-P to G-6-P, that is done by phosphoglucomutase. Instead, debranching enzyme participates in breaking down glycogen to G-1-P by breaking those 1,6 linkages.

  • @starrysky1588
    @starrysky1588 5 ปีที่แล้ว +1

    Thankssss a lot.Its my exam tomorrow.You are a life saviour.I wish we had teachers like you in university.

  • @592Johno
    @592Johno ปีที่แล้ว +2

    Absolute banger of a video. Really informative and well explained.

  • @mudasiral1956
    @mudasiral1956 3 ปีที่แล้ว

    Perfect, fabulous and excellent for ever. I need only one watch and it's fixed in my brain forever.

  • @aquadaughterofwater
    @aquadaughterofwater ปีที่แล้ว

    im so happy i finally understand biochemistry, i could cry

  • @Dina-cq9mw
    @Dina-cq9mw 4 ปีที่แล้ว +3

    BRILLIANT!!! Thankk you so much you made that very easy to remember!

  • @kaitlinsears1767
    @kaitlinsears1767 7 หลายเดือนก่อน

    COMBANK had a question on this. The question asked what we'd see after exercise, and the answer choices included both "hypoglycemia and myoglobinuria" and "increased serum creatine kinase and myoglobinuria." The correct answer was the increased serum creatine kinase, and the reasoning said that they wouldn't have hypoglycemia since the liver glycogen phosphorylase is still functional (even though the question specifically said after exercise).

  • @paulocastro5502
    @paulocastro5502 2 ปีที่แล้ว +3

    nice video, however... when you said coral reef is a branched sea plant was so cringe! It is not a plant! I am amazed no one commented this at least... cheers ;D

    • @summermorris1841
      @summermorris1841 ปีที่แล้ว +1

      I came to the comments to see if anyone pointed this out, thank you haha

  • @varunb212
    @varunb212 4 ปีที่แล้ว +1

    Who’s this savior of my life ily 😭❤️❤️

  • @Fahcina
    @Fahcina ปีที่แล้ว

    God loves you most! Thank you for the clarity!!!

  • @gilfunk_
    @gilfunk_ 3 ปีที่แล้ว

    thank you good sir
    and thank you to the visiting student on my peds rotation who turned me on to you

  • @sigmawalin5732
    @sigmawalin5732 9 หลายเดือนก่อน

    Anytime i was struggling with a topic...& u always had something to help..thank u❤️❤️

  • @shuvoislam8104
    @shuvoislam8104 3 ปีที่แล้ว +1

    fantastic illustration bro...looking forward to more from u

  • @Jpgolfmed
    @Jpgolfmed ปีที่แล้ว

    This was a fantastic video. Props to you good sir.

  • @travelales2190
    @travelales2190 3 ปีที่แล้ว

    Thnx for making GSDs simple....I was literally going Mad with the topic

  • @MedKeys.
    @MedKeys. 10 หลายเดือนก่อน

    Thank you so much for making these videos man, i really appreciate your videos.

  • @josiahlartey8736
    @josiahlartey8736 2 ปีที่แล้ว

    You killed it,man!!!! Mind blowing

  • @BrownTingz
    @BrownTingz ปีที่แล้ว

    Also a big difference between Von Gierke disease and Cori Disease is that Cori disease involves muscle hypotonia and weakness; whereas Von Gierke disease only involves the liver. Additionally, Cori disease predisposes patients to hepatic fibrosis due to the short chain glycogen molecule

  • @DrSRana-xm9qk
    @DrSRana-xm9qk 2 ปีที่แล้ว

    Excellent lectures on biochemistry. Thank you so much !

  • @sanahayyub5102
    @sanahayyub5102 2 ปีที่แล้ว

    So easy !!! I struggled to remember these so much!! God bless u dirty

  • @abdullahnafea5279
    @abdullahnafea5279 5 ปีที่แล้ว +1

    Thank you a million times... may Allah help you just like you help us.

  • @VCR47527
    @VCR47527 3 ปีที่แล้ว +1

    How do you differentiate von Gierke & Her's disease?

  • @MedManiac1
    @MedManiac1 3 ปีที่แล้ว +1

    Von gierke Von at last. last enzyme= glucose 6 phosphatase⬇️, inc glu-6-phos
    Anderson--branching enzyme⬇️
    Cori -- alpha 1,6 glucosidase debranching enzyme⬇️
    pompe =debranching (alpha 1-6 Glucosidase) in lysozyme⬇️ (acid alpha- glucosidase)
    Hers=hepatic gly phos, fasting hg
    Mcardle=myophosphorylase⬇️ (muscle) gly phos , hg on exersion0

  • @il3354
    @il3354 ปีที่แล้ว

    I can’t express how amazing this is! Thank you, thank you that k you!!!!!

  • @ME-lc2zg
    @ME-lc2zg 2 ปีที่แล้ว +1

    Debranching enzyme does not convert glucose 6 phosphate to glucose 1 phosphate. Shouldn't that be the phosphoglucomutase???? At around the 7:00- to 8:00 Mark.

  • @nystagmus
    @nystagmus 5 ปีที่แล้ว

    Thanks
    This was excellent
    but debranching enzyme has multiple functions including adding part of the branches to the elongated glycogen chain for glycogen phosphorylase to chop down later on.

  • @haderomar5636
    @haderomar5636 3 ปีที่แล้ว

    I do thank you a lot, I'm from Egypt, and also do some mnemonics related to Arab culture , but in time of exams, yours save me really😂

  • @JujulianaFan
    @JujulianaFan 2 ปีที่แล้ว

    the fact that I've been consistently getting biochem questions right over all other things when it is my god awful worst subject ever... i only have you to thank

  • @juanitaj5248
    @juanitaj5248 3 ปีที่แล้ว

    this is great info, but keeping up with what your saying is near impossible. .. PLEASE slow down so we have time to put it all together. ty

  • @rayanisam6089
    @rayanisam6089 2 ปีที่แล้ว

    I think PUMPE disease is more related with lysosomes disfunction which can lead to (pump) enzymatic component of lysosomes to blood or nearby tissues then tissues damage occur .
    I don’t know why specifically cardiac muscle is the most effected but we can search about it .

  • @justicerules1373
    @justicerules1373 4 วันที่ผ่านมา

    Hi Dirty Medicine, could you please make some videos on high yield arrow questions and jow to solve them?

  • @aayatprasad8111
    @aayatprasad8111 4 ปีที่แล้ว

    WAT AN AMAZING EXPLAINATION!!👏🏻👏🏻👏🏻👏🏻👏🏻

  • @BhavyaKansal18
    @BhavyaKansal18 4 ปีที่แล้ว +4

    This went straight into the head ^_^
    Thankyou so much for this!

  • @readerviewer8698
    @readerviewer8698 3 ปีที่แล้ว +1

    Great Presentation, Sir!

  • @shamshosho9306
    @shamshosho9306 8 หลายเดือนก่อน

    you're a lifesaver mister ❤❤

  • @myprettygirl91
    @myprettygirl91 3 ปีที่แล้ว +1

    amazing explanation! you are going to be a big reason i pass my boards

  • @mohammedaltayeb6252
    @mohammedaltayeb6252 3 ปีที่แล้ว

    Very informative and easy... Thanx bro

  • @simoreta
    @simoreta 3 ปีที่แล้ว

    Very informative and easy to understand! Thank you

  • @issacgeorgy8289
    @issacgeorgy8289 10 หลายเดือนก่อน

    Life changing video❤❤❤

  • @GuardiansofEarth
    @GuardiansofEarth ปีที่แล้ว

    That Anderson Cooper mnemonic was complete GOAT.

  • @khushwindersingh5244
    @khushwindersingh5244 3 ปีที่แล้ว +1

    glycogen by muscle isn't released outside it to be used by body right?

  • @Nothingsnwundrthsun
    @Nothingsnwundrthsun ปีที่แล้ว +1

    Awsome Content!
    Made me laugh with the Anderson Cooper one, there's nothing straight about him! lol

  • @Mishti25
    @Mishti25 ปีที่แล้ว +1

    Thankyouuuuu ❤❤

  • @riichiota2683
    @riichiota2683 ปีที่แล้ว

    Thank you so much. You did a great job.

  • @mamoonbilal5983
    @mamoonbilal5983 2 ปีที่แล้ว

    Awesome explaination

  • @doctor5366
    @doctor5366 3 ปีที่แล้ว +1

    Best best best video ever

  • @aleenaf.sheikh9255
    @aleenaf.sheikh9255 3 ปีที่แล้ว

    i have an exam tomorrow ...............THANNNKKK YYOOUUUUUUU

  • @hellomedicine6490
    @hellomedicine6490 2 ปีที่แล้ว

    What a great work

  • @reaganelyse26
    @reaganelyse26 ปีที่แล้ว

    amazing, God bless you

  • @ajrogers93
    @ajrogers93 2 ปีที่แล้ว +1

    1, 4 straight out the door; 1, 6 branching with sticks

  • @medmar930
    @medmar930 5 ปีที่แล้ว +2

    amazing video! easy to understand and review! Thank you 🙏🏻

  • @Veronicaixchel
    @Veronicaixchel 6 หลายเดือนก่อน

    Great lecture 😊

  • @kayallen7603
    @kayallen7603 ปีที่แล้ว

    Carry epi-pens containing the enzymes you lack ? Or put the enzyme into a pill and take one every morning? Or just ditch the consumption of sugars/starches?

  • @tharunraghavansuresh6505
    @tharunraghavansuresh6505 25 วันที่ผ่านมา

    Ola! for Von Gierke Disease: You've stated protein catebolism but the presentation is Hyperuricemia: My question what is the link between Hyperuricemia and protein catebolism, isn't uricemia related to purine which is broken down into uric acid? Please guide me through my doubt. Gracias!

    • @tharunraghavansuresh6505
      @tharunraghavansuresh6505 25 วันที่ผ่านมา

      Protein is required for muscle growth/repair and other cellular functions. When the body fails to produce carbohydrate due to reduce glucose synthesis. Naturally the body will move to it's alternative reserves such as fats (Lipids) and protein. Which are catebolised. As protein breaksdown, but this time not for muscle repair or growth but instead for energy: It leads to muscle atrophy eventually leading up to wasting: And the breakdown of muscles releases uric acid: Hence why there's hyperuricemia. Please cross check my understanding and please do help me refine by answer to a Specialist level.

    • @MoukhlesDerbal
      @MoukhlesDerbal 15 วันที่ผ่านมา

      ​@@tharunraghavansuresh6505You just repeatedl that protein catabolism increases uric acid not how.

  • @raniaramadan3819
    @raniaramadan3819 3 ปีที่แล้ว

    You are a life saver 🙏🏻🙏🏻🙏🏻

  • @dyanan25
    @dyanan25 2 ปีที่แล้ว

    You're a genius and a lifesaver! Thank you so much!!! God bless you. :)

  • @daifulao564
    @daifulao564 ปีที่แล้ว

    Great work

  • @rdmd
    @rdmd 3 ปีที่แล้ว

    Great crash course on the topic, thanks!

  • @dr.md.atiqurrahman4802
    @dr.md.atiqurrahman4802 3 ปีที่แล้ว

    Just awesome.....Thanks a lot

  • @pswpeng
    @pswpeng 3 ปีที่แล้ว

    wonderful video, thank you so much!! i am preparing for Neurology broad exam, and I couldn't get through the metabolic disorders.